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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital nongoitrous hypothyroidism 5
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Accession:DOID:0070125 term browser browse the term
Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: CHNG5
 primary_id: MESH:C567123
 alt_id: DOID:9008631;   OMIM:225250;   RDO:0012006
 xref: ORDO:90673
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congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      hypothyroidism 136
        congenital hypothyroidism 44
          Congenital Nongoitrous Hypothyroidism 8
            congenital nongoitrous hypothyroidism 5 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              Dwarfism 307
                congenital hypothyroidism 44
                  Congenital Nongoitrous Hypothyroidism 8
                    congenital nongoitrous hypothyroidism 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.